A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697545



Internal ID21723866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49525229..49525229hg38UCSC Ensembl
chr17:47602591..47602591hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17222995, nssv17199951
Samples
Known GenesLOC100288866
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5697545
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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